SNRPN/UBE3A Methylation Analysis Angelman Syndrome with Interpretation
Label Mnemonic: AS
Epic Lab Code: LAB2443
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Reference Range:
Angelman syndrome - absent maternal 15q12
Methodology:
Southern Blot (Methylation detection)
CPT Code:
81331
 
See also:
Chromosomal Analysis, Peripheral Blood, Cord Blood
Fluorescence In-Situ Hybridization (FISH-Microdeletion), Peripheral Blood, Fibroblasts, Other Tissue
SNRPN/UBE3A Methylation Analysis Prader-Willi with Interpretation, Whole Blood